Apert syndrome
Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, leading to an abnormal head shape and facial features. This condition is caused by mutations in the FGFR2 or FGFR1 genes, which are involved in bone growth and development. Individuals with Apert syndrome may also experience fusion of fingers and toes, known as syndactyly, and other physical abnormalities.
In addition to physical traits, Apert syndrome can be associated with developmental delays and cognitive challenges. Treatment often involves surgery to correct skull and facial deformities, as well as therapy to address any developmental issues. Early intervention is crucial for improving outcomes and quality of life for those affected by this condition.